CHRM2 variants in ExAC

CHRM2 gene summary
CHRM2 variants in

The table below lists the CHRM2 variants found in the ExAC population database. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord.✝ Variant (CDS)▼ Variant (Protein) Variant Type▼ ExAC frequency▼Populations*
1. 136700303 c.691G>A p.V231I missense 0.00298345●●●●●●
2. 136700603 c.991A>T p.T331S missense 0.00165109●●●●●●
3. 136700385 c.773A>G p.N258S missense 0.00144879●●●●●●
4. 136700726 c.1114C>G p.P372A missense 0.00126334●●●●●●
5. 136700315 c.703C>A p.L235M missense 0.00029235●●●●●●
6. 136700472 c.860C>G p.T287S missense 0.00017396●●●●●●
7. 136700369 c.757G>A p.D253N missense 0.00012500●●●●●●
8. 136700286 c.674T>A p.V225D missense 0.00008350●●●●●●
9. 136699781 c.169G>A p.V57I missense 0.00007427●●●●●●
10. 136700325 c.713G>C p.G238A missense 0.00006677●●●●●●
11. 136700643 c.1031T>G p.V344G missense 0.00005780●●●●●●
12. 136700350 c.738C>A p.N246K missense 0.00003335●●●●●●
13. 136700700 c.1088G>A p.R363H missense 0.00003304●●●●●●
14. 136700801 c.1189A>G p.I397V missense 0.00003303●●●●●●
15. 136700642 c.1030G>A p.V344M missense 0.00002478●●●●●●
16. 136700585 c.973A>T p.I325F missense 0.00002477●●●●●●
17. 136700298 c.686A>G p.D229G missense 0.00001671●●●●●●
18. 136700337 c.725A>G p.K242R missense 0.00001669●●●●●●
19. 136700331 c.719T>G p.I240R missense 0.00001669●●●●●●
20. 136700348 c.736A>G p.N246D missense 0.00001668●●●●●●
21. 136700373 c.761G>T p.G254V missense 0.00001666●●●●●●
22. 136700244 c.632G>A p.R211Q missense 0.00001662●●●●●●
23. 136700442 c.830G>A p.G277E missense 0.00001660●●●●●●
24. 136701002 c.1390G>A p.A464T missense 0.00001659●●●●●●
25. 136699630 c.18C>A p.N6K missense 0.00001657●●●●●●
26. 136699650 c.38C>A p.A13D missense 0.00001656●●●●●●
27. 136700128 c.516G>C p.E172D missense 0.00001654●●●●●●
28. 136699767 c.155G>A p.R52H missense 0.00001651●●●●●●
29. 136700589 c.977G>A p.R326K missense 0.00001651●●●●●●
30. 136700300 c.688C>T p.P230S missense 0.00000835●●●●●●
31. 136700292 c.680A>G p.N227S missense 0.00000835●●●●●●
32. 136700293 c.681C>A p.N227K missense 0.00000835●●●●●●
33. 136700333 c.721G>A p.V241M missense 0.00000835●●●●●●
34. 136700339 c.727C>T p.P243S missense 0.00000834●●●●●●
35. 136700375 c.763C>G p.L255V missense 0.00000833●●●●●●
36. 136700386 c.774C>A p.N258K missense 0.00000833●●●●●●
37. 136700397 c.785A>G p.N262S missense 0.00000832●●●●●●
38. 136700244 c.632G>T p.R211L missense 0.00000831●●●●●●
39. 136700432 c.820T>C p.C274R missense 0.00000831●●●●●●
40. 136700433 c.821G>C p.C274S missense 0.00000831●●●●●●
41. 136700436 c.824T>C p.V275A missense 0.00000831●●●●●●
42. 136700240 c.628T>A p.S210T missense 0.00000830●●●●●●
43. 136699620 c.8A>G p.N3S missense 0.00000829●●●●●●
44. 136699637 c.25A>G p.N9D missense 0.00000829●●●●●●
45. 136700072 c.460C>G p.L154V missense 0.00000829●●●●●●
46. 136700999 c.1387G>A p.G463S missense 0.00000829●●●●●●
47. 136700487 c.875T>C p.V292A missense 0.00000828●●●●●●
48. 136700207 c.595G>A p.V199M missense 0.00000828●●●●●●
49. 136699659 c.47G>A p.S16N missense 0.00000828●●●●●●
50. 136700499 c.887T>C p.M296T missense 0.00000828●●●●●●
51. 136699655 c.43A>T p.T15S missense 0.00000828●●●●●●
52. 136700475 c.863C>G p.S288X nonsense 0.00000828●●●●●●
53. 136700997 c.1385T>C p.I462T missense 0.00000828●●●●●●
54. 136699643 c.31A>T p.S11C missense 0.00000828●●●●●●
55. 136699662 c.50C>T p.P17L missense 0.00000828●●●●●●
56. 136700085 c.473C>A p.A158D missense 0.00000828●●●●●●
57. 136700523 c.911A>T p.D304V missense 0.00000827●●●●●●
58. 136699685 c.73T>C p.F25L missense 0.00000827●●●●●●
59. 136700979 c.1367T>C p.M456T missense 0.00000827●●●●●●
60. 136699704 c.92G>C p.G31A missense 0.00000827●●●●●●
61. 136700979 c.1367T>G p.M456R missense 0.00000827●●●●●●
62. 136700133 c.521G>A p.G174E missense 0.00000827●●●●●●
63. 136699667 c.55A>G p.K19E missense 0.00000827●●●●●●
64. 136700520 c.908A>C p.Q303P missense 0.00000827●●●●●●
65. 136700038 c.426G>A p.M142I missense 0.00000827●●●●●●
66. 136700203 c.591G>T p.L197F missense 0.00000827●●●●●●
67. 136699671 c.59C>T p.T20I missense 0.00000827●●●●●●
68. 136700574 c.962A>C p.K321T missense 0.00000826●●●●●●
69. 136700844 c.1232C>A p.T411N missense 0.00000826●●●●●●
70. 136700009 c.397G>C p.V133L missense 0.00000826●●●●●●
71. 136700547 c.935T>C p.L312P missense 0.00000826●●●●●●
72. 136700721 c.1109_1111delAGC p.Gln371del inframe 0.00000826●●●●●●
73. 136700735 c.1123A>T p.K375X nonsense 0.00000826●●●●●●
74. 136700654 c.1042G>C p.G348R missense 0.00000826●●●●●●
75. 136700640 c.1028C>T p.T343I missense 0.00000826●●●●●●
76. 136700745 c.1133C>T p.P378L missense 0.00000826●●●●●●
77. 136700715 c.1103T>C p.M368T missense 0.00000826●●●●●●
78. 136700821 c.1209C>A p.Y403X nonsense 0.00000826●●●●●●
79. 136700747 c.1135C>G p.P379A missense 0.00000826●●●●●●
80. 136700666 c.1054C>A p.Q352K missense 0.00000826●●●●●●
81. 136700544 c.932C>A p.S311Y missense 0.00000826●●●●●●
82. 136700727 c.1115C>A p.P372H missense 0.00000826●●●●●●
83. 136700598 c.986C>G p.T329S missense 0.00000826●●●●●●
84. 136700841 c.1229A>G p.N410S missense 0.00000826●●●●●●
85. 136700686 c.1074G>C p.Q358H missense 0.00000826●●●●●●
86. 136699718 c.106G>T p.V36L missense 0.00000826●●●●●●
87. 136700643 c.1031T>C p.V344A missense 0.00000826●●●●●●
88. 136700547 c.935T>A p.L312Q missense 0.00000826●●●●●●
89. 136700781 c.1169T>C p.L390S missense 0.00000826●●●●●●
90. 136700729 c.1117G>A p.A373T missense 0.00000826●●●●●●
91. 136700622 c.1010G>A p.C337Y missense 0.00000826●●●●●●
92. 136700871 c.1259C>G p.T420S missense 0.00000826●●●●●●
93. 136700699 c.1087C>T p.R363C missense 0.00000826●●●●●●
94. 136699725 c.113T>C p.I38T missense 0.00000826●●●●●●
95. 136699775 c.163C>T p.Q55X nonsense 0.00000825●●●●●●
96. 136699851 c.239A>T p.Y80F missense 0.00000824●●●●●●
97. 136699869 c.257T>C p.I86T missense 0.00000824●●●●●●
98. 136699849 c.237G>C p.L79F missense 0.00000824●●●●●●
99. 136699846 c.234C>A p.N78K missense 0.00000824●●●●●●

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

✝ Genomic coordinates refer to the GRCh37 release of the human genome.